Canonical Allele Identifier: CA397725674
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224654T>A , CM000679.2:g.7224654T>A GRCh38
NC_000017.10:g.7127973T>A , CM000679.1:g.7127973T>A GRCh37
NC_000017.9:g.7068697T>A NCBI36
NG_007975.1:g.9821T>A
NG_008391.2:g.397A>T
NG_033038.1:g.14891A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1691T>A MANE Select ENSP00000349297.5:p.Leu564Gln
ENST00000322910.9:c.*1646T>A ENSP00000325395.5:n.*1646T>A
ENST00000350303.9:c.1625T>A ENSP00000344152.5:p.Leu542Gln
ENST00000356839.9:c.1691T>A ENSP00000349297.5:p.Leu564Gln
ENST00000542255.6:c.537-61T>A
ENST00000543245.6:c.1760T>A ENSP00000438689.2:p.Leu587Gln
ENST00000578033.1:n.22T>A
ENST00000578319.5:n.272T>A
ENST00000578711.1:n.1150T>A
ENST00000578809.5:n.263T>A
ENST00000579425.5:n.807T>A
ENST00000579546.1:c.426T>A
ENST00000582450.1:n.288T>A
ENST00000583074.5:n.300-61T>A
ENST00000583848.5:c.65-8T>A ENSP00000466487.1:n.65-8T>A
ENST00000583850.5:n.462T>A
ENST00000583858.5:c.622T>A
ENST00000585203.6:n.882T>A
NM_000018.3:c.1691T>A NP_000009.1:p.Leu564Gln
NM_001033859.2:c.1625T>A NP_001029031.1:p.Leu542Gln
NM_001270447.1:c.1760T>A NP_001257376.1:p.Leu587Gln
NM_001270448.1:c.1463T>A NP_001257377.1:p.Leu488Gln
XM_006721516.2:c.1679-61T>A XP_006721579.2:n.1679-61T>A
XM_011523829.1:c.1577-61T>A XP_011522131.1:n.1577-61T>A
XM_011523830.1:c.1589T>A XP_011522132.1:p.Leu530Gln
XR_934021.1:n.1794T>A
XR_934022.1:n.1700T>A
XR_934023.1:n.1688-61T>A
XM_006721516.3:c.1679-61T>A XP_006721579.2:n.1679-61T>A
XM_011523829.2:c.1577-61T>A XP_011522131.1:n.1577-61T>A
XM_011523830.2:c.1589T>A XP_011522132.1:p.Leu530Gln
XM_024450741.1:c.1679T>A XP_024306509.1:p.Leu560Gln
XR_934021.2:n.1746T>A
XR_934022.2:n.1652T>A
XR_934023.2:n.1640-61T>A
NM_000018.4:c.1691T>A MANE Select NP_000009.1:p.Leu564Gln
NM_001033859.3:c.1625T>A NP_001029031.1:p.Leu542Gln
NM_001270447.2:c.1760T>A NP_001257376.1:p.Leu587Gln
NM_001270448.2:c.1463T>A NP_001257377.1:p.Leu488Gln